Table 3.
Clinical and genetic characteristics of ALS patients with the different positive cut-offs for RE ATXN2 gene.
| ALS | ||||||
|---|---|---|---|---|---|---|
| <27 | ≥27 | <28 | ≥28 | <29 | ≥29 | |
| Mean age of onset (years) | 59.95 | 59.16 | 59.96 | 58.66 | 59.81 | 61.35 |
| Mean survival (months) | 40.69 | 29.23 | 40.47 | 29.68 | 39.90 | 33.66 |
| C9orf72 + (n) | 54 (9.57%) | 6 (10.71%) | 54 (9.46%) | 6 (12.24%) | 58 (9.75%) | 2 (8%) |
| Other genes + (n) | 94 (16.66%) | 10 (18.52%) | 94 (16.46%) | 10 (20.41%) | 100 (16.81%) | 4 (16%) |
| Male/female (n/n; ratio) | 309/254 (1.217) | 28/28 (1) | 310/260 (1.192) | 27/22 (1.227) | 324/270 (1.2) | 13/12 (1.083) |
| Limb/bulbar (n/n; ratio) | 374/176 (2.125) | 41/11 (3.727) | 378/179 (2.111) | 37/8 (4.625) | 396/184 (1.467) | 29/3 (6.333) |
| Family history (+/−; %) | 122/442 (21.63%) | 20/36 (35.71%) | 122/449 (21.37%) | 20/29 (40.28%) | 131/464 (22.02%) | 11/14 (44.00%) |
| FTD (yes/no; %) | 79/485 (14.01%) | 7/49 (12.5%) | 79/492 (13.84%) | 7/42 (14.29%) | 83/512 (13.95%) | 3/22 (12.00%) |
+/− Refers to the number of patients with and without family history, respectively. n/n Refers to the number of males and females and limb and bulbar onset, respectively, within those categories.